Allele Registry

Canonical Allele Identifier: CA337097283

Gene: MT-CO1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.5913G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000853920

RCV001288242

ClinVar Variation:

692601

dbSNP:

201617272

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5913G>A , J01415.2:m.5913G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.10G>A	ENSP00000354499.2:p.Asp4Asn

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